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Letteratura scientifica selezionata sul tema "Heterozygotes"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 21 febbraio 2023

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Articoli di riviste sul tema "Heterozygotes"

1

Wicker, L. S., B. J. Miller, P. A. Fischer, A. Pressey, and L. B. Peterson. "Genetic control of diabetes and insulitis in the nonobese diabetic mouse. Pedigree analysis of a diabetic H-2nod/b heterozygote." Journal of Immunology 142, no. 3 (February 1, 1989): 781–84. http://dx.doi.org/10.4049/jimmunol.142.3.781.

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Abstract The development of autoimmune type 1 diabetes mellitus in man and the nonobese diabetic (NOD) mouse is greatly influenced by a gene linked to the MHC. Although homozygosity at the NOD MHC is required for a high prevalence of disease, during backcross studies we have found a small number of diabetic H-2nod/b MHC heterozygotes. These diabetic heterozygotes could either represent a crossover event between the MHC and a putative MHC-linked diabetogenic gene or, alternatively, they could indicate that there is a dominant MHC-linked diabetic gene that has low penetrance in the heterozygous

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2

Everse, Stephen J., Thomas Orfeo, Kathleen E. Brummel-Ziedins, Matthew F. Hockin, and Kenneth G. Mann. "Predicting Thrombosis in Factor VLeiden Heterozygotes." Blood 112, no. 11 (November 16, 2008): 1818. http://dx.doi.org/10.1182/blood.v112.11.1818.1818.

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Abstract Factor VLeiden (G1691A;R506Q) is an autosomal dominant allele displaying high prevalence (3–7%) in the United States Caucasian population and a high incidence of venous thrombosis in homozygotes (50% lifetime risk) but reduced penetrance in heterozygote carriers (&lt;10% lifetime risk). Factors that precipitate or suppress the expression of the thrombotic phenotype in factor VLeiden heterozygotes are not well defined except for relatively infrequent instances of coexpression of other thrombophilic risk factors, e.g. the prothrombin G20210A mutant. Our goal is to mathematically eva

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3

Arora, Jatin, Federica Pierini, Paul J. McLaren, Mary Carrington, Jacques Fellay, and Tobias L. Lenz. "HLA Heterozygote Advantage against HIV-1 Is Driven by Quantitative and Qualitative Differences in HLA Allele-Specific Peptide Presentation." Molecular Biology and Evolution 37, no. 3 (October 22, 2019): 639–50. http://dx.doi.org/10.1093/molbev/msz249.

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Abstract Pathogen-mediated balancing selection is regarded as a key driver of host immunogenetic diversity. A hallmark for balancing selection in humans is the heterozygote advantage at genes of the human leukocyte antigen (HLA), resulting in improved HIV-1 control. However, the actual mechanism of the observed heterozygote advantage is still elusive. HLA heterozygotes may present a broader array of antigenic viral peptides to immune cells, possibly resulting in a more efficient cytotoxic T-cell response. Alternatively, heterozygosity may simply increase the chance to carry the most protective

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4

Falchetti, Alberto, Annamaria Morelli, Andrea Amorosi, Francesco Tonelli, Silvia Fabiani, Valentina Martineti, Roberto Castello, Lino Furlani, and Maria Luisa Brandi. "Allelic Loss in Parathyroid Tumors from Individuals Homozygous for Multiple Endocrine Neoplasia Type 11." Journal of Clinical Endocrinology & Metabolism 82, no. 7 (July 1, 1997): 2278–82. http://dx.doi.org/10.1210/jcem.82.7.4042.

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Homozygosity for the multiple endocrine neoplasia type 1 (MEN1) gene mutation was described in two of three affected siblings of a kindred in which both parents and the third daughter were heterozygotes. Surprisingly, in the two homozygotes, the disease history did not differ from the one of the heterozygotes. In the attempt to unravel genetic differences in parathyroid tumorigenesis between homozygotes and heterozygotes, restriction fragment length polymorphism analysis and microsatellite PCR analysis for loss of heterozygosity (LOH) at the MEN1 gene region on chromosome 11q13 was performed i

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5

Dai, K., C. B. Gillies, and A. E. Dollin. "Synaptonemal complex analysis of domestic sheep (Ovis aries) with Robertsonian translocations. II. Trivalent and pairing abnormalities in Massey I and Massey II heterozygotes." Genome 37, no. 4 (August 1, 1994): 679–89. http://dx.doi.org/10.1139/g94-096.

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Zygotene and pachytene spermatocytes from Massey I (t1 5;26) and Massey II (t2 8;11) translocation heterozygotes each contained one trivalent, often delayed in pairing, while cells from double Massey translocation heterozygotes had two such trivalents. As meiosis progressed, trivalents became fully paired, with acrocentric axes in a cis configuration. Abnormal pairing configurations often resulted from interactions between unpaired chromosome axes or segments. However, when two Massey trivalents were present in the same nucleus, there was no pairing interaction between them. In different Masse

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6

Ng, Kevin, Erron W. Titus, Krystien V. Lieve, Thomas M. Roston, Andrea Mazzanti, Frederick H. Deiter, Isabelle Denjoy, et al. "An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia." Circulation 142, no. 10 (September 8, 2020): 932–47. http://dx.doi.org/10.1161/circulationaha.120.045723.

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Background: Genetic variants in calsequestrin-2 ( CASQ2 ) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of CASQ2 -CPVT was sought through an international multicenter collaboration. Methods: Genotype-phenotype segregation in CASQ2 -CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models. Putative dominant CASQ

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7

Bonvicino, Cibele R., Paulo S. D'Andrea, and Pavel M. Borodin. "Pericentric inversion in natural populations of Oligoryzomys nigripes (Rodentia: Sigmodontinae)." Genome 44, no. 5 (October 1, 2001): 791–96. http://dx.doi.org/10.1139/g01-080.

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We analysed polymorphism for pericentric inversion in chromosome 3 of Oligoryzomys nigripes (Rodentia: Sigmodontinae) in several populations in Brazil and examined the meiotic behaviour of this chromosome in heterozygotes. We observed an orderly pairing of all chromosomes at pachytene in heterozygotes for the inverted chromosome 3. No indication of meiotic arrest and germ-cell death was found. Electron microscopy of synaptonemal complexes and conventional meiotic analysis indicated strictly nonhomologous synapsis and crossing-over suppression in the inverted region in the heterozygotes, which

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8

Rossi, Enrico, Max K. Bulsara, John K. Olynyk, Digby J. Cullen, Lesa Summerville, and Lawrie W. Powell. "Effect of Hemochromatosis Genotype and Lifestyle Factors on Iron and Red Cell Indices in a Community Population." Clinical Chemistry 47, no. 2 (February 1, 2001): 202–8. http://dx.doi.org/10.1093/clinchem/47.2.202.

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Abstract Background: Heterozygotes for the C282Y mutation of the HFE gene may have altered hematology indices and higher iron stores than wild-type subjects. Methods: We performed a cross-sectional analysis of 1488 females and 1522 males 20–79 years of age drawn from the Busselton (Australia) population study to assess the effects of HFE genotype, age, gender, and lifestyle on serum iron and hematology indices. Results: Male C282Y heterozygotes had increased transferrin saturation compared with the wild-type genotype. Neither male nor female heterozygotes had significantly increased ferritin v

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9

Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Bruno Girolami, and Maria L. Randi. "Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery." Cardiovascular & Hematological Disorders-Drug Targets 19, no. 3 (October 21, 2019): 233–38. http://dx.doi.org/10.2174/1871529x19666190308114842.

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Objective: To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation. Methods: Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered. Results: 30

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McClelland, Erin E., Dustin J. Penn, and Wayne K. Potts. "Major Histocompatibility Complex Heterozygote Superiority during Coinfection." Infection and Immunity 71, no. 4 (April 2003): 2079–86. http://dx.doi.org/10.1128/iai.71.4.2079-2086.2003.

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ABSTRACT Genes of the major histocompatibility complex (MHC) play a critical role in immune recognition, and many alleles confer susceptibility to infectious and autoimmune diseases. How these deleterious alleles persist in populations is controversial. One hypothesis postulates that MHC heterozygote superiority emerges over multiple infections because MHC-mediated resistance is generally dominant and many allele-specific susceptibilities to pathogens will be masked by the resistant allele in heterozygotes. We tested this hypothesis by using experimental coinfections with Salmonella enterica (

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Più fonti

Tesi sul tema "Heterozygotes"

1

GAY, PHILIPPE. "Etude de l'erythropoietine au cours des thalassemies heterozygotes." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20193.

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Rowe, Steven M., Cori Daines, Felix C. Ringshausen, Eitan Kerem, John Wilson, Elizabeth Tullis, Nitin Nair, et al. "Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis." MASSACHUSETTS MEDICAL SOC, 2017. http://hdl.handle.net/10150/626280.

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BACKGROUND Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show residual function and respond to the CFTR potentiator ivacaftor in vitro, whereas ivacaftor alone does not restore activity to Phe508del mutant CFTR. METHODS We conducted a randomized, double-blind, placebo-controlled, phase 3, crossover trial to evaluate the efficacy and safety of ivacaftor alone or in combination with tezacaftor, a CFTR corrector, in 248 patients 12 years of age or older who had cystic fibrosis and were

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3

Sousa, Ribeiro Maria Leticia de. "ß-Thalassemia and HB lepore heterozygotes: phenotype-genotype correlation." [Maastricht : Maastricht : Universiteit Maastricht] ; University Library, Maastricht University [Host], 1997. http://arno.unimaas.nl/show.cgi?fid=5822.

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Lebea, Phiyani Justice 1974. "Molecular characterisation of suspected heterozygotes of trimethylaminuria / Phiyani Justice Lebea." Thesis, Potchefstroom University for Christian Higher Education, 2002. http://hdl.handle.net/10394/13595.

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Trimethylaminuria (McKusick 602079) or Fish odour syndrome is inherited recessively as a defect in hepatic nitrogen-oxidation of dietary derived trimethylamine (TMA), which causes excess excretion of trimethylamine such that affected individuals have a body odour reminiscent of rotten fish (Zhang et al., 1995). Trimethylaminuria is a result of either partial or total incapacity to oxygenate trimethylarninuria to its oxide, trimethylamine oxide (TMAO), by an enzyme known as the flavin-containing monooxygenase 3 (FM03). Mutations in the gene of the major human liver enzyme isoform, FM03, are res

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5

Jansen, Natalie R. "Comparison of Health-Related Quality of Life Between Heterozygous Women with Fabry Disease, the General Population, and Patients with Chronic Disease." University of Cincinnati / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1109182046.

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Skjönsberg, Åsa. "Hereditary susceptibility to inner ear stress agents studied in heterozygotes of the German waltzing guinea pig /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-817-7/.

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MARISSAL, CARBONNIER CATHERINE. "Depistage des heterozygotes pour le bloc de la 21 hydroxylase dans une population de femmes adultes hirsutes." Lille 2, 1988. http://www.theses.fr/1988LIL2M001.

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8

Zhang, Mingcai. "The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster." Bowling Green State University / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040.

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9

Yardin, Marie Roseline, of Western Sydney Hawkesbury University, Faculty of Science and Technology, and School of Science. "Genetic variation in Anadara trapezia (Sydney cockle) : implications for the recruitment of marine organisms." THESIS_FST_SS_Yardin_M.xml, 1997. http://handle.uws.edu.au:8081/1959.7/56.

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This project investigated the genetic composition of natural populations of Anadara trapezia in Australia at three spatial scales : i) microgeographic (within an estuary, 50 metres to ~ 6 kilometres); ii) microgeographic (within populations, less than 50 metres); and, iii) macrogeographic (hundreds of kilometres along the coast of Australia). Allozyme polymorphism surveys using cellulose acetate strips have revealed, from 43 enzymes screened, 18 putative polymorphic loci. Comparisons of levels of heterozygosity among enzyme structural groups showed no significant differences, however, monomers

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HADJ, SAHRAOUI NADIA. "Processus involutifs affectant les cellules de purkinje au cours du vieillissement chez deux mutants neurologiques : les souris heterozygotes staggerer (+/sg) et reeler (+/rl)." Paris 6, 1996. http://www.theses.fr/1996PA066779.

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La perte des neurones est consideree comme une des principales causes de la deterioration des fonctions du systeme nerveux central au cours du vieillissement. Cependant, les preuves experimentales d'une diminution du nombre des neurones au cours du vieillissement dit normal en particulier chez l'homme peuvent etre sujettes a caution tant a cause des methodes de comptage cellulaire utilisees qu'en raison de pathologies associees non evidentes. Un autre facteur pourrait jouer un role essentiel dans la variabilite des resultats de la litterature a savoir l'heterogeneite genetique des populations

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Libri sul tema "Heterozygotes"

1

Tuckerman, Elizabeth M. Studies on the fragile x syndrome with special reference to X-inactivation in female heterozygotes. Birmingham: University of Birmingham, 1988.

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2

Callister, David Rooks. Heterozygosity retained in simulated composite breeds. 1993.

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3

Bright-Thomas, Rowland J., and Andrew M. Jones. Cystic fibrosis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0132.

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Cystic fibrosis is the most common lethal autosomal recessive disorder in Caucasians. There is no known survival advantage of the heterozygote carrier state. Chronic progressive pulmonary infection and bronchiectasis are the major causes of morbidity and mortality. The disease affects all ductal systems where the basic defect is manifest, including the pancreas, gastrointestinal tract, sinuses, hepatobiliary system, and male reproductive system, and has significant effects on nutrition and growth.

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4

Frankham, Richard, Jonathan D. Ballou, Katherine Ralls, Mark D. B. Eldridge, Michele R. Dudash, Charles B. Fenster, Robert C. Lacy, and Paul Sunnucks. Inbreeding reduces reproductive fitness. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198783398.003.0003.

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The harmful impacts of inbreeding are generally greater in species that naturally outbreed compared to those in inbreeding species, greater in stressful than benign environments, greater for fitness than peripheral traits, and greater for total fitness compared to its individual components. Inbreeding reduces survival and reproduction (i.e., it causes inbreeding depression), and thereby increases the risk of extinction. Inbreeding depression is due to increased homozygosity for harmful alleles and at loci exhibiting heterozygote advantage. Natural selection may remove (purge) the alleles that

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5

Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0321.

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Alport syndrome is an inherited renal disorder characterized by early haematuria, progressing to proteinuria, sensorineural hearing loss, and progressive renal failure typically in the third or fourth decade but with wide variation. It is responsible for about 1% of end-stage renal failure. Over 80% of cases are X-linked and young men are most affected, but heterozygous carriers of the abnormal gene are also at significantly increased risk of end-stage renal failure in their lifetime. Those affected by the autosomal recessive variant are phenotypically very similar. It is caused by mutations i

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6

Pearl, Phillip L., and William P. Welch. Pediatric Neurotransmitter Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0059.

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The pediatric neurotransmitter disorders represent an enlarging group of neurological syndromes characterized by inherited abnormalities of neurotransmitter synthesis, metabolism, and transport. Disorders involving monoamine synthesis include guanosine triphosphate cyclohydrolase deficiency (Segawa disease or classical Dopa-responsive dystonia as the heterozygous form), aromatic amino acid decarboxylase deficiency, tyrosine hydrolase deficiency, sepiapterin reductase deficiency, and disorders of tetrahydrobiopterin synthesis. These disorders can be classified according to whether they feature

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7

Ehninger, Dan, and Alcino J. Silva. Tuberous Sclerosis and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0009.

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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Joz

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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0322_update_001.

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This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develop

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9

Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Amer College of Obstetricians &, 2001.

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Kriemler, Susi. Exercise, physical activity, and cystic fibrosis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199232482.003.0033.

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Cystic fibrosis (CF) is the most common genetic autosomal recessive disease of the Caucasian race, generally leading to death in early adulthood.1 The frequency of the gene carrier (heterozygote) is 1:20–25 in Caucasian populations, 1:2000 in African-Americans, and practically non-existent in Asian populations. The disease occurs in about 1 in every 2500 life births of the white population. Mean survival has risen from 8.4 years in 1969 to 32 years in 2000 due to improvements in treatment. The genetic defect causes a pathological electrolyte transport through the cell membranes by a defective

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Capitoli di libri sul tema "Heterozygotes"

1

Scott, D., L. A. Jones, S. A. G. Elyan, A. Spreadborough, R. Cowan, and G. Ribiero. "Identification of A-T heterozygotes." In Ataxia-Telangiectasia, 101–16. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-78278-7_9.

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2

Gr�nfeld, J. P., O. Lidove, and F. Barbey. "Heterozygotes with Fabry�s Disease." In Contributions to Nephrology, 208–10. Basel: KARGER, 2001. http://dx.doi.org/10.1159/000060188.

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Dallapiccola, B., and B. Porfirio. "Chromosomal Studies in Fanconi Anemia Heterozygotes." In Fanconi Anemia, 145–58. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-74179-1_12.

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4

Norman, Amos, and H. Rodney Withers. "Mammography Screening for A-T Heterozygotes." In Ataxia-Telangiectasia, 137–40. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-78278-7_12.

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Kamatani, Naoyuki, Hisashi Yamanaka, Kusuki Nishioka, Yutaro Nishida, and Kiyonobu Mikanagi. "Diagnosis of Lesch-Nyhan Heterozygotes by Peripheral Blood." In Purine and Pyrimidine Metabolism in Man V, 157–62. Boston, MA: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-5104-7_24.

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Sahota, Amrik, Steve Bye, Ju Chen, Nada H. Khattar, Mitchell S. Turker, Fernando Moro, H. Anne Simmonds, Brian T. Emmerson, Ross B. Gordon, and J. A. Tischfield. "Molecular Characterization of a Novel Mutation in APRT Heterozygotes." In Purine and Pyrimidine Metabolism in Man VIII, 675–78. Boston, MA: Springer US, 1995. http://dx.doi.org/10.1007/978-1-4615-2584-4_140.

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Jordan, G., and J. D. Mollon. "Unique hues in heterozygotes for protan and deutan deficiencies." In Documenta Ophthalmologica Proceedings Series, 67–76. Dordrecht: Springer Netherlands, 1997. http://dx.doi.org/10.1007/978-94-011-5408-6_6.

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8

Paeratakul, Umnarj, and Milton W. Taylor. "Selection and Characterization of APRT Heterozygotes of Mouse L-5178Y Cells." In Purine and Pyrimidine Metabolism in Man V, 253–58. Boston, MA: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-5104-7_40.

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Shin, Y. S., H. Steigüber, P. Klemm, W. Endres, O. Schwab, and G. Wolff. "Branching Enzyme in Erythrocytes. Detection of Type IV Glycogenosis Homozygotes and Heterozygotes." In Studies in Inherited Metabolic Disease, 252–54. Dordrecht: Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-1259-5_46.

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10

Arnemann, J. "Heterozygotie." In Springer Reference Medizin, 1107–8. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3499.

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Atti di convegni sul tema "Heterozygotes"

1

Hassan, H. J., L. Cianetti, P. M. Mannucci, V. Vicente, R. Cortese, and C. Peschle. "HEREDITARY THROMBOPHILIA CAUSED BY MISSENSE MUTATION IN PROTEIN C GENE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642944.

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Abstract (sommario):

The structure of the gene for protein C was analyzed in 13 protein C deficient unrelated patients (11 heterozygous, 2 homozygous), who showed an equivalent reduction of this serine protease at both enzymatic and antigen level. No deletion(s) or rearrangement(s) was demonstrated by Southern blot after hybridization to a cDNA probe. One patient showed a variant restriction pattern after Bam HI digestion, characterized by an abnormal 9.6 kb band in addition to the 8.3 and 1.3 normal ones. Extensive family studies, including 7 heterozygotes with the same clinical phenotype, showed the same abnorma

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2

Bounameaux, H., Ph de Moerloose, J. Vogel, G. Reber, B. Krahenbuhl, and C. Bouvier. "NORMAL PREGNANCY AND DELIVERY IN A PATIENT WITH SEVERE PROTEIN C DEFICIENCY AND PREVIOUS DEEP-VEIN THROMBOSIS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644312.

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Congenital protein C (PC) deficiency is associated with thrombophilia. Heterozygotes with about half-normal plasma PC levels may present with venous thromboembolic events usually beginning during adolescence or young adulthood. A 26-year-old swiss woman had experienced an iliofemoral deep-vein thrombosis without obvious etiology six years.ago. In June, 1986 very low levels of PC antigen (25 %) and activity (27 %) were found when she was six-month pregnant. Three other family members (62, 24 and 19-year-old) had PC levels around 50 % but were symptomfree. Because of the post-thrombotic~syndrome

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3

Borg, J. Y., M. C. Owen, C. Soria, J. Caen, and R. W. Carrell. "ANTITHROMBIN ROUEN-I(47 ARG→HIS) AND ROUEN-II (47SER) : TWO NEW VARIANTS WITH DECREASED HEPARIN AFFINITY." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643679.

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Four families with AT-III variants of decreased heparin affinity have been compared with families with a quantitative deficiency of AT-III. The affinity variants had a lower incidence of thrombosis and, unlike thedefiency variants, had no increase in plasma FDF (defined by anti-D-neo ELISA assay). These results support a major physiological role for the progressive activity of AT-III.The characterisation of the affinity variants provides information onthe heparin-binding site. Variants were isolated from plasma of heterozygotes by NaCl elution gradient from a heparin-Sepharose column. Maps of

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4

Wautier, J. L., B. Boi zard, Y. Gruel, and J. P. Caen. "IMMUNOLOGICAL STUDY OF GLYCOPROTEINS AND ANTIGENS IN GLANZMANN'S THROMBASTHENIA HETEROZYGOTES." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644742.

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To further explore the genetic transmission of Glanzmann thrombasthenia (GT) we have conducted a study of platelet glycoproteins and antigens using mono or polyclonal antibodies and cytofluorography. Twenty two members of 4 different families in which at least one member was affected with GT were explored. The reactivity with AP2 (anti GPIIbllla complex), AP3 (anti GPIIIa) antibodies, anti PLA1 and anti Leka was lower than 5% in the platelets of. the 5 patients with GT type I. The 9 obligatory carriers for GT trait were tested with the same technique. The mean value of reactivity expressed as

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5

Castaman, G., F. Rodeghiero, and M. Ruggeri. "HOMOZYGOUS FACTOR XII CONGENITAL DEFICIENCY: STUDY OF 10 NEW FAMILIES." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643300.

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Sporadic cases of thromboembolic events have been reported in patients with congenital factor XII deficiency and a relationship with a reduced intrinsic fibrinolysis has been suggested.We report here the results of clinical and laboratory investigations in 10 new families comprising 15 homozygotes (age 16-72) and 14 heterozygotes (age 18-65).In homozygotes, kaolin-activated-PTT was indefinitely prolonged and F XII activity and antigen were undetectable, whereas functional assays . of high molecular weight kininogen ahd kallikrein yielded normal values. Intrinsic fibrinolytic activity - assayed

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6

Erenso, D., R. Solomon, J. Cooper, G. Welker, E. Aguilar, B. Flanagan, C. Pennycuff, et al. "Heterozygotes and Homozygotes Genotypes Human Red Blood Cells Response to Trap and Drag Force." In Bio-Optics: Design and Application. Washington, D.C.: OSA, 2013. http://dx.doi.org/10.1364/boda.2013.jt2a.25.

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7

Chun, Sehwan, So-Young Bang, Hye-Soon Lee, Sang-Cheol Bae, and Kwangwoo Kim. "267 Relative expression strength of HLA-DRB1 in heterozygotes is associated with rheumatic diseases." In 13th International Congress on Systemic Lupus Erythematosus (LUPUS 2019), San Francisco, California, USA, April 5–8, 2019, Abstract Presentations. Lupus Foundation of America, 2019. http://dx.doi.org/10.1136/lupus-2019-lsm.267.

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8

Zikan, M., O. Dubova, V. Student, P. Koliba, T. Brtnicky, and P. Kabele. "824 Double heterozygotes for high penetrance susceptibility genes are not rare and require special care." In ESGO 2021 Congress. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/ijgc-2021-esgo.556.

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9

"Chromosome synapsis and recombination in intraspecific and interspecific heterozygotes for chromosomal rearrangements in voles of the genus Alexandromys." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-384.

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10

Ploos van Amstel, J. K., A. L. van der Zanden, P. H. Reitsma, and R. M. Bertina. "RESTRICTION ANALYSIS AND SOUTHERN BLOTTING OF TOTAL HUMAN DNA REVEALS THE EXISTENCE OF MORE THAN ONE GENE HOMOLOGOUS WITH PROTEIN S cDNA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644639.

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Abstract (sommario):

A deficiency in protein S, the cofactor of activated protein C, is associated with an increased risk for the development of venous thrombosis. It is inherited as an autosomal dominant disorder. To improve the detection of heterozygotes in affected families, we have started to search for restriction fragment length polymorphism (RFLP) in the protein S gene. This study revealed the existence of two genes containing sequences homologous to protein S cDNA.Three non-overlapping fragments of clone pSUL5, which codes for the carboxy-terminal part of protein S and contains the complete 3' untranslated

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Rapporti di organizzazioni sul tema "Heterozygotes"

1

Moll, Ute M. Risk for Sporadic Breast Cancer in Ataxia Telangiectasia Heterozygotes. Fort Belvoir, VA: Defense Technical Information Center, August 2000. http://dx.doi.org/10.21236/ada395438.

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2

Moll, Ute M. Risk for Sporadic Breast Cancer in Ataxia Telangiectasia Heterozygotes. Fort Belvoir, VA: Defense Technical Information Center, August 1999. http://dx.doi.org/10.21236/ada393435.

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3

Gao, Qingshen. Susceptibility of BRCA2 Heterozygous Normal Mammary Epithelial Cells to Radiation-Induced Transformation. Fort Belvoir, VA: Defense Technical Information Center, October 2005. http://dx.doi.org/10.21236/ada455086.

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4

Gao, Quingshen. Susceptibility of BRCA2 Heterozygous Normal Mammary Epithelial Cells to Radiation Induced Transformation. Fort Belvoir, VA: Defense Technical Information Center, October 2002. http://dx.doi.org/10.21236/ada412997.

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5

Richmond, Robert C. Cell and Molecular Biology of Ataxia Telangiectasia Heterozygous Human Mammary Epithelial Cells Irradiated in Culture. Fort Belvoir, VA: Defense Technical Information Center, September 2002. http://dx.doi.org/10.21236/ada412826.

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6

Smith, Adrian P., John A. Lee, and Steven I. Reed. Breast Tumor Kinetics in Mice Overexpressing Cyclin E and Heterozygous for Tumor Suppressor p53 or Rb. Fort Belvoir, VA: Defense Technical Information Center, May 2001. http://dx.doi.org/10.21236/ada395709.

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7

Smith, Adrian P., Steven I. Reed, and John A. Lee. Breast Tumor Kinetics in Mice Overexpressing Cyclin E and Heterozygous for Tumor Suppressor p53 or Rb. Fort Belvoir, VA: Defense Technical Information Center, May 2002. http://dx.doi.org/10.21236/ada407356.

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8

Smith, Adrian P., Steven I. Reed, and John A. Lee. Breast Tumor Kinetics in Mice Overexpressing Cyclin E and Heterozygous for Tumor Suppressor p53 or Rb. Fort Belvoir, VA: Defense Technical Information Center, May 2003. http://dx.doi.org/10.21236/ada416982.

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9

Kurimasa, Akihiro, Sandeep Burma, Melinda Henrie, Honghai Ouyang, Mitsuhiko Osaki, Hisao Ito, Hatsumi Nagasawa, et al. Disruption of NBS1 gene leads to early embryonic lethality in homozygous null mice and induces specific cancer in heterozygous mice. Office of Scientific and Technical Information (OSTI), April 2002. http://dx.doi.org/10.2172/943450.

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10

Ginzberg, Idit, Richard E. Veilleux, and James G. Tokuhisa. Identification and Allelic Variation of Genes Involved in the Potato Glycoalkaloid Biosynthetic Pathway. United States Department of Agriculture, August 2012. http://dx.doi.org/10.32747/2012.7593386.bard.

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Steroidal glycoalkaloids (SGAs) are secondary metabolites being part of the plant defense response. The two major SGAs in cultivated potato (Solanum tuberosum) are α-chaconine and α-solanine, which exhibit strong cellular lytic properties and inhibit acetylcholinesterase activity, and are poisonous at high concentrations for humans. As SGAs are not destroyed during cooking and frying commercial cultivars have been bred to contain low levels, and their content in tubers should not exceed 20 mg/100 g fresh weight. However, environmental factors can increase tuber SGA content above the safe level

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